Author

Yi-Heng Zeng

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Oct 2026

Gain-of-Function Variants in PLAAT4 and Spinal Predominant Demyelinating Leukodystrophy.

Importance Leukoencephalopathies are clinically and etiologically heterogeneous disorders, and establishing a specific diagnosis remains challenging. Patients with unexplained spastic paraplegia and brain white matter hyperintensities (WMH) may be misdiagnosed as having multiple sclerosis, potentially exposing them to...

Yi-Heng Zeng, Bo-Li Chen, Yan Shi et al. · JAMA Neurology · 0 citations

Sep 2026

A De Novo 16p13.3 Triplication Underlying Early-Onset Complex Neurodegeneration.

These findings support a role for structural variation in early-onset neurodegeneration and highlight the value of combining short-read copy-number profiling with long-read WGS to detect and characterize complex genomic rearrangements.

Ze-Hong Zheng, Ru-Ying Yuan, Min Fang et al. · Movement Disorders · 0 citations